ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0002101 (SAS)
Genomes Max Group AF
0.00000801 (AFR)
Exomes Max Group AF
0.0002129 (SAS)
Revel Score:
ENST00000342992
0.403
ENST00000460472
0.403
ENST00000342175
0.403
ENST00000359218
0.403
ENST00000356127
0.403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614733C>T , CM000664.2:g.178614733C>T | GRCh38 |
| NC_000002.11:g.179479460C>T , CM000664.1:g.179479460C>T | GRCh37 |
| NC_000002.10:g.179187705C>T | NCBI36 |
| NG_011618.3:g.221070G>A , LRG_391:g.221070G>A | |
| NG_051363.1:g.96907C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41077G>A (TTN) | ENSP00000343764.6:p.Asp13693Asn | |
| ENST00000342175.11:c.22162G>A (TTN) | ENSP00000340554.6:p.Asp7388Asn | |
| ENST00000359218.10:c.21961G>A (TTN) | ENSP00000352154.5:p.Asp7321Asn | |
| ENST00000342175.10:c.22162G>A (TTN) | ENSP00000340554.6:p.Asp7388Asn | |
| ENST00000342992.10:c.41077G>A (TTN) | ENSP00000343764.6:p.Asp13693Asn | |
| ENST00000359218.9:c.21961G>A (TTN) | ENSP00000352154.5:p.Asp7321Asn | |
| ENST00000460472.6:c.21586G>A (TTN) | ENSP00000434586.1:p.Asp7196Asn | |
| ENST00000589042.5:c.48781G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp16261Asn | |
| ENST00000591111.5:c.43858G>A (TTN) | ENSP00000465570.1:p.Asp14620Asn | |
| ENST00000615779.4:c.43858G>A (TTN) | ENSP00000483597.1:p.Asp14620Asn | |
| NM_001256850.1:c.43858G>A (TTN) | NP_001243779.1:p.Asp14620Asn | |
| NM_001267550.2:c.48781G>A (TTN) MANE Select | NP_001254479.2:p.Asp16261Asn | |
| NM_003319.4:c.21586G>A (TTN) | NP_003310.4:p.Asp7196Asn | |
| NM_133378.4:c.41077G>A (TTN) | NP_596869.4:p.Asp13693Asn | |
| NM_133432.3:c.21961G>A (TTN) | NP_597676.3:p.Asp7321Asn | |
| NM_133437.4:c.22162G>A (TTN) | NP_597681.4:p.Asp7388Asn | |
| NR_038271.1:n.1481C>T (TTN-AS1) | ||
| XM_011511729.1:c.47878G>A (TTN) | XP_011510031.1:p.Asp15960Asn | |
| XM_011511730.1:c.21772G>A (TTN) | XP_011510032.1:p.Asp7258Asn | |
| XM_011511731.1:c.21631G>A (TTN) | XP_011510033.1:p.Asp7211Asn | |
| XM_017004819.1:c.47674G>A (TTN) | XP_016860308.1:p.Asp15892Asn | |
| XM_017004820.1:c.43072G>A (TTN) | XP_016860309.1:p.Asp14358Asn | |
| XM_017004821.1:c.43069G>A (TTN) | XP_016860310.1:p.Asp14357Asn | |
| XM_017004822.1:c.40111G>A (TTN) | XP_016860311.1:p.Asp13371Asn | |
| XM_017004823.1:c.21727G>A (TTN) | XP_016860312.1:p.Asp7243Asn | |
| XM_024453094.1:c.43222G>A (TTN) | XP_024308862.1:p.Asp14408Asn | |
| XM_024453095.1:c.43219G>A (TTN) | XP_024308863.1:p.Asp14407Asn | |
| XM_024453096.1:c.42652G>A (TTN) | XP_024308864.1:p.Asp14218Asn | |
| XM_024453097.1:c.39994G>A (TTN) | XP_024308865.1:p.Asp13332Asn | |
| XM_024453098.1:c.39913G>A (TTN) | XP_024308866.1:p.Asp13305Asn | |
| XM_024453099.1:c.21676G>A (TTN) | XP_024308867.1:p.Asp7226Asn | |
| XM_024453100.1:c.11530G>A (TTN) | XP_024308868.1:p.Asp3844Asn |